How Can Personal Genomics Lead to Better Health Outcomes?

Steve Jobs was among the first 20 humans in the world to get his DNA sequenced for a whopping $1,00,000, in hopes that it would throw some light on possible treatment options for his battle with pancreatic cancer. Today DNA information serves as a second line of diagnosis for many serious conditions including cancers, Alzheimer’s, and many rare genetic disorders that are caused by de novo mutations.

It is not always necessary to sequence all the 3 billion base pairs within you. Genotyping of selected genes that have been known to be associated with specific conditions is preferred among healthcare practitioners for economic reasons. Sequencing is usually done at the last resort when all possible mutations have been tested and exhausted. Common variants of the gene encoding the apolipoprotein (APOE), is a well known “hot-spot” for Alzheimer’s disease (AD). Individuals with the risk variant (APOE e4) have 3-10 times the baseline risk than that found in individuals who have the non-risk variants. At the same time, there is evidence to show that individuals with APOE e2 are genetically protected against developing AD. Such information can be priceless while trying to manage a condition that currently affects more than 44 million people worldwide.

About 34% of all the clinically significant drug interactions are based on genetics. Patients affected by conditions like familial hypercholesterolemia, that require apheresis when left untreated, are prescribed drugs like atorvastatin, based on the genotype of the LDLR gene. Statins are a family of drugs known to have dangerous side-effects like statin-induced myopathy affecting 0.1% of the patients who are not prescribed the correct dose

However, their tremendous medical significance can be put to full use when the dose is prescribed appropriately. Drug therapy these days are strongly recommended to be done based on the genetic makeup of an individual. However, today there is much more that is happening in the personal genomics arena.

New generation genetic reports are given out for just anybody who would care enough to know more about themselves. More than 70% Indians are lactose intolerant and about 140 million Indians are gluten intolerant. So much for a country whose diet is governed by milk and wheat. Both the conditions above are difficult to detect and are brushed off as casual discomfort. Yet it is possible to estimate your risk of developing these conditions using genetic technology. Today direct-to-consumer genetic testing is the trend. Nutrigenomics, fitness genomics and applications to other industries like skin care and improving the success of assisted reproductive technologies are on the rise. While other applications are slowly catching up, nutrigenomics is towering as a significant sub-branch of personal genomics. Dealing with the genome-diet inter-phase where your genetic makeup influences your response to macro and micronutrients it focuses on the preventive aspects of your health. A notable mention is the MTHFR gene which is widely tested and has vast clinical and non-clinical applications. A variant of the MTHFR gene that prevails in 30-40% of the population reduces the ability to convert folate (Vitamin B9) to methylfolate by 40-70%. This one step alters different wings of your system ranging from natural detoxification to molecular-level processes like DNA repair. Depending on whether or not a dietitian has this information will lead to drastically different diet strategies.

Credit to technology like micro-array geno-typing that has enabled companies to study lakhs of polymorphisms in a single person at once. This has done miracles to the turnaround time and mass reproducibility. Bio informatic tools allow data scientists to mine thousands of scientific literature efficiently and maintain a vast database. This has also lead to in silica storage of genetic information from which information can be extracted at any point. This has lead to using genetic information for preventive measures than for diagnostic purposes. Personal genomics has a wider reach and functionality than just in the medical and pharmaceutical industry.

The ability to choose to access your own genetic information is still a relatively young concept. Yet it has picked up considerable momentum with the advent of niche applications of genomic knowledge on everyday life. This will significantly advance the management of health in the population and aid valuable policy changes for the benefit of the world.